Canonical Allele Identifier: CA355462354

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184373057A>T , CM000665.2:g.184373057A>T GRCh38
NC_000003.11:g.184090845A>T , CM000665.1:g.184090845A>T GRCh37
NC_000003.10:g.185573539A>T NCBI36
NG_012136.1:g.10088T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645603.2:c.938T>A (THPO) ENSP00000494281.2:p.Val313Asp
ENST00000647395.1:c.518T>A (THPO) MANE Select ENSP00000494504.1:p.Val173Asp
ENST00000649095.1:c.938T>A (THPO) ENSP00000497904.1:p.Val313Asp
ENST00000650229.1:c.501T>A (THPO) ENSP00000497233.1:p.Arg167=
ENST00000204615.11:c.518T>A (THPO) ENSP00000204615.7:p.Val173Asp
ENST00000421442.2:c.477+41T>A (THPO) ENSP00000411704.2:n.477+41T>A
ENST00000444495.1:c.2106+228350A>T (EIF2B5) ENSP00000409142.1:n.2106+228350A>T
ENST00000445696.6:c.506T>A (THPO) ENSP00000410763.2:p.Val169Asp
ENST00000477594.1:n.164+41T>A (THPO)
NM_000460.3:c.518T>A (THPO) NP_000451.1:p.Val173Asp
NM_001177597.2:c.506T>A (THPO) NP_001171068.1:p.Val169Asp
NM_001177598.2:c.501T>A (THPO) NP_001171069.1:p.Arg167=
NM_001289997.1:c.477+41T>A (THPO) NP_001276926.1:n.477+41T>A
NM_001289998.1:c.518T>A (THPO) NP_001276927.1:p.Val173Asp
NM_001290003.1:c.938T>A (THPO) NP_001276932.1:p.Val313Asp
NM_001290022.1:c.506T>A (THPO) NP_001276951.1:p.Val169Asp
NM_001290026.1:c.501T>A (THPO) NP_001276955.1:p.Arg167=
NM_001290027.1:c.477+41T>A (THPO) NP_001276956.1:n.477+41T>A
NM_001290028.1:c.518T>A (THPO) NP_001276957.1:p.Val173Asp
XM_011513113.1:c.885+41T>A (THPO) XP_011511415.1:n.885+41T>A
NM_000460.4:c.518T>A (THPO) MANE Select NP_000451.1:p.Val173Asp
XM_017007107.1:c.885+41T>A (THPO) XP_016862596.1:n.885+41T>A